Germ-Line Mutation

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  Subject Areas on Research

  • Accumulation of p53 protein is frequent in ovarian cancers associated with BRCA1 and BRCA2 germline mutations. 
  • Activating mutation in MET oncogene in familial colorectal cancer. 
  • Antibodies VRC01 and 10E8 neutralize HIV-1 with high breadth and potency even with Ig-framework regions substantially reverted to germline. 
  • Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study. 
  • BRCA1 immunohistochemistry in a molecularly characterized cohort of ovarian high-grade serous carcinomas. 
  • Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis. 
  • C-Cell Neoplasia in Asymptomatic Carriers of RET Mutation in Extracellular Cysteine-Rich and Intracellular Tyrosine Kinase Domain. 
  • CCM1 and CCM2 protein interactions in cell signaling: implications for cerebral cavernous malformations pathogenesis. 
  • Carcinogenicity of a nephrotoxic metabolite of the "nongenotoxic" carcinogen hydroquinone. 
  • Characterization of T gene sequence variants and germline duplications in familial and sporadic chordoma. 
  • Clinical and pathological features of ovarian cancer in women with germ-line mutations of BRCA1. 
  • Detailed computational study of p53 and p16: using evolutionary sequence analysis and disease-associated mutations to predict the functional consequences of allelic variants. 
  • Detecting Germline PTEN Mutations Among At-Risk Patients With Cancer: An Age- and Sex-Specific Cost-Effectiveness Analysis. 
  • Detecting colorectal cancer in stool with the use of multiple genetic targets. 
  • Evidence for the efficacy of Iniparib, a PARP-1 inhibitor, in BRCA2-associated pancreatic cancer. 
  • Frequency of germline and somatic BRCA1 mutations in ovarian cancer. 
  • Generation and analysis of partially haploid cells with Cre-mediated chromosome deletion in the lymphoid system. 
  • Generation of Dhx9-deficient clones in T-cell development with a mitotic recombination technique. 
  • Genetic/familial high-risk assessment: breast and ovarian, version 1.2014. 
  • Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 
  • Germline genetic variation in ETV6 and risk of childhood acute lymphoblastic leukaemia: a systematic genetic study. 
  • Germline mutations in shelterin complex genes are associated with familial glioma. 
  • Germline polymorphisms in an enhancer of PSIP1 are associated with progression-free survival in epithelial ovarian cancer. 
  • Germline rearrangements in families with strong family history of glioma and malignant melanoma, colon, and breast cancer. 
  • Germline signaling mediates the synergistically prolonged longevity produced by double mutations in daf-2 and rsks-1 in C. elegans. 
  • Glioma Groups Based on 1p/19q, IDH, and TERT Promoter Mutations in Tumors. 
  • Hereditary nonpolyposis colorectal cancer: preventive management. 
  • Heritable resistance to tyrosine kinase inhibitors. 
  • Identification of the breast cancer susceptibility gene BRCA2. 
  • Increased risk for familial ovarian cancer among Jewish women: a population-based case-control study. 
  • Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder. 
  • Large-scale evaluation of common variation in regulatory T cell-related genes and ovarian cancer outcome. 
  • Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis. 
  • Mortality reduction and cost-effectiveness of performing hysterectomy at the time of risk-reducing salpingo-oophorectomy for prophylaxis against serous/serous-like uterine cancers in BRCA1 mutation carriers. 
  • Mutation in the mismatch repair gene Msh6 causes cancer susceptibility. 
  • Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia. 
  • Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA). 
  • Origins and prevalence of the American Founder Mutation of MSH2. 
  • Patched-one or smoothened gene mutations are infrequent in chondrosarcoma. 
  • Polycystic kidney disease as a result of loss of the tuberous sclerosis 2 tumor suppressor gene during development. 
  • Prevalence of deleterious ATM germline mutations in gastric cancer patients. 
  • Prophylactic and risk-reducing bilateral salpingo-oophorectomy: recommendations based on risk of ovarian cancer. 
  • Screening for familial and hereditary prostate cancer. 
  • Society of Gynecologic Oncologists Education Committee statement on risk assessment for inherited gynecologic cancer predispositions. 
  • Survey of familial glioma and role of germline p16INK4A/p14ARF and p53 mutation. 
  • Synaptic, transcriptional and chromatin genes disrupted in autism. 
  • TP53 intron 1 hotspot rearrangements are specific to sporadic osteosarcoma and can cause Li-Fraumeni syndrome. 
  • The influence of clinical and genetic factors on patient outcome in small cell carcinoma of the ovary, hypercalcemic type. 
  • The nucleotide-replacement spectrum under somatic hypermutation exhibits microsequence dependence that is strand-symmetric and distinct from that under germline mutation. 
  • The role of hPMS1 and hPMS2 in predisposing to colorectal cancer. 
  • The targeting of somatic hypermutation closely resembles that of meiotic mutation. 
  • Traceback: A Proposed Framework to Increase Identification and Genetic Counseling of BRCA1 and BRCA2 Mutation Carriers Through Family-Based Outreach. 
  • Two identical triplet sisters carrying a germline BRCA1 gene mutation acquire very similar breast cancer somatic mutations at multiple other sites throughout the genome. 
  • Whole-exome sequencing of breast cancer, malignant peripheral nerve sheath tumor and neurofibroma from a patient with neurofibromatosis type 1. 
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  Keywords of People

  • Berchuck, Andrew, James M. Ingram Professor of Gynecologic Oncology, Obstetrics and Gynecology, Gynecologic Oncology
  • Yan, Hai, Henry S. Friedman Professor of Neuro-Oncology in the School of Medicine, Pathology